1. The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper
- Author
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Roy, Noémi B. A., Da Costa, Lydie, Russo, Roberta, Bianchi, Paola, Mañú-Pereira, Maria del Mar, Fermo, Elisa, Andolfo, Immacolata, Clark, Barnaby, Proven, Melanie, Sanchez-Fernandez, Mayka, Van Wijk, Richard, Van der Zwaag, Bert, Layton, Mark, Rees, David, Iolascon, Achille, British Society for Haematology/ European Hematology Association, Institut Català de la Salut, [Roy NBA] Department of Haematology, Oxford University Hospitals, NHS Foundation Trust, Oxford, UK. NIHR BRC Blood Theme, Oxford, UK. [Da Costa L] Hôpital Universitaire Robert Debré, Paris, France. [Russo R] Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy. CEINGE Biotecnologie Avanzate, Naples, Italy. [Bianchi P, Fermo E] UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano, Milan, Italy. [Mañú-Pereira MDM] Grup de Recerca Translacional en Trastorns d'Anèmia Rara, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Roy, Noémi B A, Da Costa, Lydie, Russo, Roberta, Bianchi, Paola, Del Mar Mañú-Pereira, Maria, Fermo, Elisa, Andolfo, Immacolata, Clark, Barnaby, Proven, Melanie, Sanchez, Mayka, van Wijk, Richard, van der Zwaag, Bert, Layton, Mark, Rees, David, and Iolascon, Achille
- Subjects
Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases [DISEASES] ,Buenas prácticas ,Otros calificadores::/diagnóstico [Otros calificadores] ,High-Throughput Nucleotide Sequencing ,Anemia ,Malalties rares - Diagnòstic ,Hematology ,Patient care ,Atenció al pacient ,afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras [ENFERMEDADES] ,Investigative Techniques::Genetic Techniques::Sequence Analysis::High-Throughput Nucleotide Sequencing [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT] ,Mutation ,Bones pràctiques ,Anèmia - Diagnòstic ,Atención al paciente ,Other subheadings::/diagnosis [Other subheadings] ,Humans ,Good practices ,técnicas de investigación::técnicas genéticas::análisis de secuencias::secuenciación de nucleótidos de alto rendimiento [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS] ,Hemic and Lymphatic Diseases::Hematologic Diseases::Anemia [DISEASES] ,enfermedades hematológicas y linfáticas::enfermedades hematológicas::anemia [ENFERMEDADES] ,Seqüència de nucleòtids - Abstract
The British Society for Haematology (BSH) produces Good Practice Papers to recommend good practice in areas where there is a limited evidence base but for which a degree of consensus or uniformity is likely to be beneficial to patient care. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) nomenclature was used to evaluate levels of evidence and to assess the strength of recommendations. The GRADE criteria can be found at http://www.gradeworkinggroup.org. This Good Practice Paper was produced as a collaboration with the European Hematology Association (EHA) compiled according to the (BSH) process at http://scanmail.trustwave.com/?c=8248&d=68DV3b1jbPPsVn-8nm3kGS2D_-Hms9YWMWrrk5K8Eg&u=http%3a%2f%2fb-s-h%2eorg.uk. This guideline group included UK-based medical experts representing the BSH and members of the Red Cell and Iron Scientific Working Group (SWG) of EHA. Literature review details: MEDLINE, EMBASE and PubMED were searched systematically for publications in English from 2000 to 2019 using the following key words. ‘NGS’ and ‘next-generation sequencing’ or ‘high throughput sequencing’ AND ‘haemolytic anaemia’ or ‘DBA or ‘Diamond Blackfan anaemia’ or ‘CDA’ or ‘congenital dyserythropoietic anaemia’ or ‘sideroblastic anaemia’ or ‘HS' or ‘hereditary spherocytosis’ or ‘red cell membrane disorders’ or ‘red cell enzyme disorders’ or ‘PK deficiency’ or ‘PKD’. References from relevant publications were also searched. Conference abstracts were included if deemed to be of particular relevance. Review of the manuscript: Review of the manuscript was performed by the BSH Guidelines Committee General Haematology Task Force, the BSH Guidelines Committee and the General Haematology sounding board of the BSH. It was also on the members section of the BSH website for comment. It has also been reviewed by members of the EHA Red Cell and Iron SWG and the EHA Guidelines Executive Committee. info:eu-repo/semantics/publishedVersion
- Published
- 2022